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1

Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation

Duran, Daniel, Jin, Sheng Chih, DeSpenza, Tyrone, Nelson-Williams, Carol, Cogal, Andrea G, Abrash, Elizabeth W, Harris, Peter C, Lieske, John C, Shimshak, Serena JE, Mane, Shrikant, Bilguvar, Kaya, Di

Journal:

Human Genome Variation

Year:

2016

Language:

english

File:

PDF, 861 KB

english, 2016

2

A non-coding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family

Besse, Whitney, Choi, Jungmin, Ahram, Dina, Mane, Shrikant, Sanna-Cherchi, Simone, Torres, Vicente, Somlo, Stefan

Journal:

Year:

2017

Language:

english

File:

PDF, 822 KB

english, 2017

3

[IEEE 2017 8th International Conference on Mechanical and Aerospace Engineering (ICMAE) - Prague, Czech Republic (2017.7.22-2017.7.25)] 2017 8th International Conference on Mechanical and Aerospace Engineering (ICMAE) - Influence of heat treatment on mechanical properties and microstructure of EN AW 6082 aluminum alloy

Jadhav, Shrikant, Singh, Rajkumar, Pawar, Vinayak, Mane, Santosh

Year:

2017

Language:

english

File:

PDF, 437 KB

english, 2017

4

Microsatellite instability and gene mutations in transforming growth factor-beta type II receptor are absent in small bowel carcinoid tumors

Mark Kidd, Geeta Eick, Michael D. Shapiro, Robert L. Camp, Shrikant M. Mane, Irvin M. Modlin

Journal:

Year:

2005

Language:

english

File:

PDF, 350 KB

english, 2005

5

Utility of molecular genetic signatures in the delineation of gastric neoplasia

Mark Kidd, Irvin M. Modlin, Shrikant M. Mane, Robert L. Camp, Geeta N. Eick, Igor Latich, Michelle N. Zikusoka

Journal:

Year:

2006

Language:

english

File:

PDF, 285 KB

english, 2006

6

Small bowel carcinoid (enterochromaffin cell) neoplasia exhibits transforming growth factor–β1-mediated regulatory abnormalities including up-regulation of C-Myc and MTA1

Mark Kidd, Irvin M. Modlin, Roswitha Pfragner, Geeta N. Eick, Manish C. Champaneria, Anthony K. Chan, Robert L. Camp, Shrikant M. Mane

Journal:

Year:

2007

Language:

english

File:

PDF, 505 KB

english, 2007

7

Predicting neuroendocrine tumor (carcinoid) neoplasia using gene expression profiling and supervised machine learning

Ignat Drozdov, Mark Kidd, Boaz Nadler, Robert L. Camp, Shrikant M. Mane, Oyvind Hauso, Bjorn I. Gustafsson, Irvin M. Modlin

Journal:

Year:

2009

Language:

english

File:

PDF, 1.75 MB

english, 2009

8

RAS gene activation in acute myelogenous leukemia: Analysis by in vitro amplification and dna base sequence determination

Shrikant M. Mane, Stephen J. Meltzer, John C. Gutheil, Vikram Kapil, Edward J. Lee, Dr. Samuel W. Needleman

Journal:

Genes, Chromosomes and Cancer

Year:

1990

Language:

english

File:

PDF, 641 KB

english, 1990

9

Rapid identification of disease-causing mutations using copy number analysis within linkage intervals

Fatih Bayrakli, Kaya Bilguvar, Christopher E. Mason, Michael L. DiLuna, Yasar Bayri, Levent Gungor, Murat Terzi, Shrikant M. Mane, Richard P. Lifton, Matthew W. State, Murat Gunel

Journal:

Year:

2007

Language:

english

File:

PDF, 264 KB

english, 2007

10

Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing

Ruth H. Walker, Vincent P. Schulz, Irina R. Tikhonova, Milind C. Mahajan, Shrikant Mane, Maritza Arroyo Muniz, Patrick G. Gallagher

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 339 KB

english, 2012

11

Aquaporin-4 is increased in the sclerotic hippocampus in human temporal lobe epilepsy

Tih Shih Lee, Tore Eid, Shrikant Mane, Jung H. Kim, Dennis D. Spencer, Ole Petter Ottersen, Nihal C. de Lanerolle

Journal:

Acta Neuropathologica

Year:

2004

Language:

english

File:

PDF, 1.83 MB

english, 2004

12

Defining a molecular fingerprint of STAT3-regulated genes associated with oncogenesis using microarray technology and novel statistical methods

Sinibaldi, Dominic, Garcia, Roy, Bloom, Greg, Mane, Shrikant, Geiser, Peter, Minton, Susan, Muro-Cacho, Carlos, Lazaridis, Emmanuel, Jove, Richard

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 27 KB

english, 2001

13

Susceptibility loci for intracranial aneurysm in European and Japanese populations

von und zu Fraunberg, Mikael, van Duijn, Cornelia M, van den Berg, Leonard H, Mane, Shrikant, Mason, Christopher E, Choi, Murim, Bilguvar, Kaya, Yasuno, Katsuhito, Niemelä, Mika, Ruigrok, Ynte M

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 462 KB

english, 2008

14

The Role of Genetic Markers—NAP1L1,MAGE-D2, andMTA1—in Defining Small-Intestinal Carcinoid Neoplasia

Mark Kidd, Irvin M. Modlin, Shrikant M. Mane, Robert L. Camp, Geeta Eick, Igor Latich

Journal:

Annals of Surgical Oncology

Year:

2006

Language:

english

File:

PDF, 667 KB

english, 2006

15

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

Michael J. Bamshad, Jay A. Shendure, David Valle, Ada Hamosh, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, Richard P. Lifton, Mark Gerstein, Murat Gunel, Shrikant Mane, Deborah A. Nickerson, on

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 77 KB

english, 2012

16

Parallel declines in cognition, motivation, and locomotion in aging mice: Association with immune gene upregulation in the medial prefrontal cortex

Kelly A. Bordner, Robert R. Kitchen, Becky Carlyle, Elizabeth D. George, Milind C. Mahajan, Shrikant M. Mane, Jane R. Taylor, Arthur A. Simen

Journal:

Experimental Gerontology

Year:

2011

Language:

english

File:

PDF, 902 KB

english, 2011

17

Microarray results: how accurate are they?

Ravi Kothapalli, Sean J Yoder, Shrikant Mane, Thomas P Loughran

Journal:

BMC Bioinformatics

Year:

2002

Language:

english

File:

PDF, 632 KB

english, 2002

18

Purification and characterization of human lysosomal membrane glycoproteins

Shrikant M. Mane, Louis Marzella, Dorothy F. Bainton, Valerie K. Holt, Ying Cha, James E.K. Hildreth, J.Thomas August

Journal:

Archives of Biochemistry and Biophysics

Year:

1989

Language:

english

File:

PDF, 10.60 MB

english, 1989

19

A novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group

Fatih Bayrakli, Ilter Guney, Yasar Bayri, Adife Gulhan Ercan-Sencicek, Dogan Ceyhan, Tufan Cankaya, Christopher Mason, Kaya Bilguvar, Sengul Bayrakli, Shrikant M. Mane, Matthew W. State, Murat Gunel

Journal:

Journal of Clinical Neuroscience

Year:

2009

Language:

english

File:

PDF, 377 KB

english, 2009

20

Molecular classification of doxazosin-induced alterations in the rat prostate using gene expression profiling

Makoto Yono, Harris E. Foster Jr., David Shin, Shrikant Mane, Jamshid Latifpour

Journal:

Year:

2005

Language:

english

File:

PDF, 225 KB

english, 2005

21

Differential effects of diabetes induced by streptozotocin and that develops spontaneously on prostate growth in Bio Breeding (BB) rats

Makoto Yono, Shrikant M. Mane, Aiping Lin, Robert M. Weiss, Jamshid Latifpour

Journal:

Year:

2008

Language:

english

File:

PDF, 807 KB

english, 2008

22

Functional and Evolutionary Insights into Human Brain Development through Global Transcriptome Analysis

Matthew B. Johnson, Yuka Imamura Kawasawa, Christopher E. Mason, Željka Krsnik, Giovanni Coppola, Darko Bogdanović, Daniel H. Geschwind, Shrikant M. Mane, Matthew W. State, Nenad Šestan

Journal:

Year:

2009

Language:

english

File:

PDF, 2.87 MB

english, 2009

23

A simple method to improve probe set estimates from oligonucleotide arrays

Emmanuel N Lazaridis, Dominic Sinibaldi, Gregory Bloom, Shrikant Mane, Richard Jove

Journal:

Mathematical Biosciences

Year:

2002

Language:

english

File:

PDF, 83 KB

english, 2002

24

Altered Expression of Cytokine Signaling Pathway Genes in Peripheral Blood Cells of Alcohol Dependent Subjects: Preliminary Findings

Robert D. Beech, Jie Qu, Janine J. Leffert, Aiping Lin, Kwangik A. Hong, Julie Hansen, Sheila Umlauf, Shrikant Mane, Hongyu Zhao, Rajita Sinha

Journal:

Alcoholism: Clinical and Experimental Research

Year:

2012

Language:

english

File:

PDF, 294 KB

english, 2012

25

Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus

Levinsohn, Jonathan L, Tian, Li C, Boyden, Lynn M, McNiff, Jennifer M, Narayan, Deepak, Loring, Erin S, Yun, Duri, Sugarman, Jeffrey L, Overton, John D, Mane, Shrikant M, Lifton, Richard P, Paller, Am

Journal:

The Journal of Investigative Dermatology

Year:

2013

Language:

english

File:

PDF, 2.00 MB

english, 2013

26

Insights from gene arrays on the development and growth regulation of uterine leiomyomata

John C.M Tsibris, James Segars, Domenico Coppola, Shrikant Mane, George D Wilbanks, William F O’Brien, William N Spellacy

Journal:

Fertility and Sterility

Year:

2002

Language:

english

File:

PDF, 102 KB

english, 2002

27

44 High Efficacy of Gene Expression Profiling and Regularized Discriminant Analysis in the Prediction of Neuroendocrine Tumor Subtypes and Their Metastases

Ignat Drozdov, Mark Kidd, Robert L. Camp, Shrikant M. Mane, Bjorn I. Gustafsson, Boaz Nadler, Irvin M. Modlin

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

28

Immunoprecipitation of cell lysates with RAP-5 does not specifically detect ras oncogene product p21

John C. Gutheil, Shrikant Mane, Vikram Kapil, Samuel W. Needleman

Journal:

Human Pathology

Year:

1989

Language:

english

File:

PDF, 645 KB

english, 1989

29

Microarray analysis of gene expression in bronchioalveolar lavage cells of subjects with asthma following segmental allergen challenge

Huang, S-K, Li, XD, Liu, MC, Lockey, Richard F, Mane, Shrikant, Mohapatra, Shyam S

Journal:

Journal of Allergy and Clinical Immunology

Year:

2002

Language:

english

File:

PDF, 128 KB

english, 2002

30

Increased ratio of anti-apoptotic to pro-apoptotic Bcl2 gene-family members in lithium-responders one month after treatment initiation

Lowthert, Lori, Leffert, Janine, Lin, Aiping, Umlauf, Sheila, Maloney, Kathleen, Muralidharan, Anjana, Lorberg, Boris, Mane, Shrikant, Zhao, Hongyu, Sinha, Rajita, Bhagwagar, Zubin, Beech, Robert

Journal:

Biology of Mood & Anxiety Disorders

Year:

2012

Language:

english

File:

PDF, 360 KB

english, 2012

31

A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B

Keramati, Ali R., Fathzadeh, Mohsen, Go, Gwang-Woong, Singh, Rajvir, Choi, Murim, Faramarzi, Saeed, Mane, Shrikant, Kasaei, Mohammad, Sarajzadeh-Fard, Kazem, Hwa, John, Kidd, Kenneth K., Babaee Bigi,

Journal:

New England Journal of Medicine

Year:

2014

Language:

english

File:

PDF, 1001 KB

english, 2014

32

Genomic analysis of human gastric ECL cell carcinoid tumors

Kidd, Mark, Modlin, Irvin M., Mane, Shrikant, Lye, Kevin D.

Journal:

Gastroenterology

Year:

2003

Language:

english

File:

PDF, 178 KB

english, 2003

33

T1718 SNP Identification of Common Gene Alterations in Crohn's Disease and Familial Neuroendocrine Tumors: Concordant Expression of Immune-Associated Genes

Kidd, Mark, Alexandraki, Krystallenia, Kaltsas, Gregory A., Mane, Shrikant M., Papailiou, Joanna, Ioannis, Kozadinos, Piperi, Christina, Drozdov, Ignat, Svejda, Bernhard, Modlin, Irvin, Gustafsson, Bj

Journal:

Gastroenterology

Year:

2010

Language:

english

File:

PDF, 49 KB

english, 2010

34

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology

Vilarinho, Sílvia, Choi, Murim, Jain, Dhanpat, Malhotra, Ajay, Kulkarni, Sanjay, Pashankar, Dinesh, Phatak, Uma, Patel, Mohini, Bale, Allen, Mane, Shrikant, Lifton, Richard P., Mistry, Pramod K.

Journal:

Journal of Hepatology

Year:

2014

Language:

english

File:

PDF, 2.15 MB

english, 2014

35

The genetics of functional disability in schizophrenia and bipolar illness: Methods and initial results for VA cooperative study #572

Harvey, Philip D., Siever, Larry J., Huang, Grant D., Muralidhar, Sumitra, Zhao, Hongyu, Miller, Perry, Aslan, Mihaela, Mane, Shrikant, McNamara, Margaret, Gleason, Theresa, Brophy, Mary, Przygodszki,

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2014

Language:

english

File:

PDF, 140 KB

english, 2014

36

Yale Center for Clinical Investigation: Leveraging Industry Partnerships and Research Cores

Sherwin, Robert, Slayman, Carolyn, Rockwell, Sara, Herold, Kevan, Williams, Kenneth, Carson, Richard, Mane, Shrikant, Seow, Helen, Max, Jill, Johnson, Tesheia

Journal:

Clinical and Translational Science

Year:

2012

Language:

english

File:

PDF, 497 KB

english, 2012

37

Early Life Stress Inhibits Expression of a Novel Innate Immune Pathway in the Developing Hippocampus

Wei, Lan, Simen, Arthur, Mane, Shrikant, Kaffman, Arie

Journal:

Neuropsychopharmacology

Year:

2012

Language:

english

File:

PDF, 742 KB

english, 2012

38

Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi

Levinsohn, Jonathan L, Teng, Joyce, Craiglow, Brittany G, Loring, Erin C, Burrow, T Andrew, Mane, Shrikant S, Overton, John D, Lifton, Richard P, McNiff, Jennifer M, Lucky, Anne W, Choate, Keith A

Journal:

The Journal of Investigative Dermatology

Year:

2014

Language:

english

File:

PDF, 2.84 MB

english, 2014

39

Stress-Related Alcohol Consumption in Heavy Drinkers Correlates with Expression of miR-10a, miR-21, and Components of the TAR-RNA-Binding Protein-Associated Complex

Beech, Robert D., Leffert, Janine J., Lin, Aiping, Hong, Kwangik A., Hansen, Julie, Umlauf, Sheila, Mane, Shrikant, Zhao, Hongyu, Sinha, Rajita

Journal:

Alcoholism: Clinical and Experimental Research

Year:

2014

Language:

english

File:

PDF, 182 KB

english, 2014

40

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Boyden, Lynn M., Choi, Murim, Choate, Keith A., Nelson-Williams, Carol J., Farhi, Anita, Toka, Hakan R., Tikhonova, Irina R., Bjornson, Robert, Mane, Shrikant M., Colussi, Giacomo, Lebel, Marcel, Gord

Journal:

Year:

2012

Language:

english

File:

PDF, 1.18 MB

english, 2012

41

Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6 R611C increases PDGF-dependent vascular smooth muscle cell proliferation

Keramati, Ali R., Singh, Rajvir, Lin, Aiping, Faramarzi, Saeed, Ye, Zhi-jia, Mane, Shrikant, Tellides, George, Lifton, Richard P., Mani, Arya

Journal:

Proceedings of the National Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 470 KB

english, 2011

42

Whole-Exome Sequencing Characterizes the Landscape of Somatic Mutations and Copy Number Alterations in Adrenocortical Carcinoma

Juhlin, C. Christofer, Goh, Gerald, Healy, James M., Fonseca, Annabelle L., Scholl, Ute I., Stenman, Adam, Kunstman, John W., Brown, Taylor C., Overton, John D., Mane, Shrikant M., Nelson-Williams, Ca

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 1.76 MB

english, 2015

43

Noninvasive Analysis of the Sputum Transcriptome Discriminates Clinical Phenotypes of Asthma

Yan, Xiting, Chu, Jen-Hwa, Gomez, Jose, Koenigs, Maria, Holm, Carole, He, Xiaoxuan, Perez, Mario F., Zhao, Hongyu, Mane, Shrikant, Martinez, Fernando D., Ober, Carole, Nicolae, Dan L., Barnes, Kathlee

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2015

Language:

english

File:

PDF, 1.96 MB

english, 2015

44

Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas

Cromer, M. Kyle, Choi, Murim, Nelson-Williams, Carol, Fonseca, Annabelle L., Kunstman, John W., Korah, Reju M., Overton, John D., Mane, Shrikant, Kenney, Barton, Malchoff, Carl D., Stalberg, Peter, Ak

Journal:

Proceedings of the National Academy of Sciences

Year:

2015

Language:

english

File:

PDF, 1.08 MB

english, 2015

45

Constitutive expression of cytotoxic proteases and down-regulation of protease inhibitors in LGL leukemia

Kothapalli, Ravi, Bailey, Ratna, Kusmartseva, Irina, Mane, Shrikant, Epling-Burnette, P., Loughran, Thomas

Journal:

International Journal of Oncology

Year:

2003

Language:

english

File:

PDF, 1.88 MB

english, 2003

46

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

Pramod K. Mistry, Jun Liu, Mei Yang, Timothy Nottoli, James McGrath, Dhanpat Jain, Kate Zhang, Joan Keutzer, Wei-Lein Chuang, Wajahat Z. Mehal, Hongyu Zhao, Aiping Lin, Shrikant Mane, Xuan Liu, Yuan Z

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 1.93 MB

english, 2010

47

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP

Çağlayan, Ahmet O, Tüysüz, Beyhan, Coşkun, Süleyman, Quon, Jennifer, Harmancı, Akdes S, Baranoski, Jacob F, Baran, Burçin, Erson-Omay, E Zeynep, Henegariu, Octavian, Mane, Shrikant M, Bilgüvar, Kaya,

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.45 MB

english, 2016

48

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus

Li, Na, Subrahmanyan, Lakshman, Smith, Emily, Yu, Xiaoqing, Zaidi, Samir, Choi, Murim, Mane, Shrikant, Nelson-Williams, Carol, Bahjati, Mohadesseh, Kazemi, Mohammad, Hashemi, Mohammad, Fathzadeh, Mohs

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 2.77 MB

english, 2016

49

Complete Genome Sequence of Enterococcus faecium ATCC 700221

McKenney, Peter T., Ling, Lilan, Wang, Guilin, Mane, Shrikant, Pamer, Eric G.

Journal:

Genome Announcements

Year:

2016

Language:

english

File:

PDF, 161 KB

english, 2016

50

Genetic Differentiation of Appendiceal Tumor Malignancy

Modlin, Irvin M., Kidd, Mark, Latich, Igor, Zikusoka, Michelle N., Eick, Geeta N., Mane, Shrikant M., Camp, Robert L.

Journal:

Annals of Surgery

Year:

2006

Language:

english

File:

PDF, 1.34 MB

english, 2006